Canonical Allele Identifier: CA339681895

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245868T>A (hg19) ; chr1:g.32780267T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780267T>A , CM000663.2:g.32780267T>A	GRCh38
NC_000001.10:g.33245868T>A , CM000663.1:g.33245868T>A	GRCh37
NC_000001.9:g.33018455T>A	NCBI36
NG_008408.1:g.42766A>T , LRG_273:g.42766A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1005A>T	ENSP00000502019.1:p.Ala335=
ENST00000373477.9:c.1152A>T MANE Select	ENSP00000362576.4:p.Ala384=
ENST00000674629.1:c.*700A>T	ENSP00000502470.1:n.*700A>T
ENST00000674654.1:c.*1112A>T	ENSP00000501729.1:n.*1112A>T
ENST00000675785.1:c.1005A>T	ENSP00000502019.1:p.Ala335=
ENST00000676297.1:c.*1326A>T	ENSP00000501596.1:n.*1326A>T
ENST00000373477.8:c.1152A>T	ENSP00000362576.4:p.Ala384=
ENST00000469100.5:n.1068A>T
ENST00000478828.1:n.619A>T
ENST00000487404.5:n.1462A>T
ENST00000490826.1:n.445A>T
ENST00000616261.1:c.1151A>T	ENSP00000484192.1:p.Gln384Leu
NM_003680.3:c.1152A>T , LRG_273t1:c.1152A>T	NP_003671.1:p.Ala384=
XM_011542347.1:c.522A>T	XP_011540649.1:p.Ala174=
XM_011542348.1:c.522A>T	XP_011540650.1:p.Ala174=
XM_011542347.2:c.522A>T	XP_011540649.1:p.Ala174=
XM_017002651.2:c.522A>T	XP_016858140.1:p.Ala174=
NM_003680.4:c.1152A>T MANE Select	NP_003671.1:p.Ala384=